Incidental Mutation 'IGL02152:Chrm5'
ID 282049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrm5
Ensembl Gene ENSMUSG00000074939
Gene Name cholinergic receptor, muscarinic 5
Synonyms muscarinic acetylcholine receptor 5, M5R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL02152
Quality Score
Chromosome 2
Chromosomal Location 112309516-112311114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112310913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 68 (Y68H)
Ref Sequence ENSEMBL: ENSMUSP00000097185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099589]
AlphaFold Q920H4
Predicted Effect probably damaging
Transcript: ENSMUST00000099589
AA Change: Y68H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097185
Gene: ENSMUSG00000074939
AA Change: Y68H

Pfam:7TM_GPCR_Srx 38 242 2.3e-8 PFAM
Pfam:7TM_GPCR_Srsx 41 253 7.5e-8 PFAM
Pfam:7tm_1 47 495 1.5e-79 PFAM
low complexity region 507 518 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit loss of acetylcholine-induced dilation of cerebral arteries, decreased pilocarpine-induced salivation, increased water-deprivation induced drinking, and attenuated morphine reinforcement and withdrawal. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(3)

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,695,983 (GRCm39) T140A probably benign Het
4933430I17Rik T C 4: 62,460,991 (GRCm39) Y289H possibly damaging Het
Adamts17 T A 7: 66,774,748 (GRCm39) S956T probably benign Het
Adamts6 A T 13: 104,450,168 (GRCm39) S290C probably null Het
Apaf1 A T 10: 90,897,681 (GRCm39) H267Q probably benign Het
Aplp2 G A 9: 31,122,947 (GRCm39) P26L unknown Het
Arid1b C T 17: 5,364,243 (GRCm39) S1019F probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Ass1 T C 2: 31,382,336 (GRCm39) I169T probably damaging Het
Ccser1 A G 6: 61,288,692 (GRCm39) D285G possibly damaging Het
Cenpf A G 1: 189,381,209 (GRCm39) V2737A probably benign Het
Cops4 A G 5: 100,681,456 (GRCm39) T164A probably benign Het
Cox4i1 A G 8: 121,399,604 (GRCm39) S72G probably benign Het
Cpox A G 16: 58,494,787 (GRCm39) T275A possibly damaging Het
Cyb5a T C 18: 84,891,281 (GRCm39) I68T probably benign Het
Efna5 T C 17: 62,958,055 (GRCm39) D67G probably benign Het
Enpp3 T C 10: 24,649,900 (GRCm39) E842G probably damaging Het
Fam210b A G 2: 172,193,423 (GRCm39) K79E probably benign Het
Gm4799 T C 10: 82,790,589 (GRCm39) noncoding transcript Het
Gpr146 A T 5: 139,378,467 (GRCm39) R90W probably damaging Het
H2ac10 A G 13: 23,718,451 (GRCm39) H124R probably benign Het
Hal A G 10: 93,339,404 (GRCm39) I498V possibly damaging Het
Hnrnpm C T 17: 33,877,386 (GRCm39) G365R probably damaging Het
Jakmip3 A G 7: 138,627,217 (GRCm39) D407G probably damaging Het
Kank1 A G 19: 25,405,536 (GRCm39) I1185V possibly damaging Het
Kcnj16 A T 11: 110,916,036 (GRCm39) M233L probably benign Het
Klhl5 A T 5: 65,306,143 (GRCm39) Q370L probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Las1l A G X: 94,996,908 (GRCm39) V130A probably damaging Het
Liat1 A G 11: 75,894,051 (GRCm39) I143V probably benign Het
Lrp2bp A T 8: 46,476,081 (GRCm39) Y274F probably damaging Het
Morc2b T A 17: 33,356,917 (GRCm39) K285M probably damaging Het
Mpp3 A T 11: 101,916,216 (GRCm39) Y45* probably null Het
Muc4 T A 16: 32,598,023 (GRCm39) probably benign Het
Muc5ac T C 7: 141,353,914 (GRCm39) C837R possibly damaging Het
Nr2f6 T A 8: 71,828,810 (GRCm39) I155F probably damaging Het
Nsg1 A G 5: 38,302,145 (GRCm39) F50L probably benign Het
Or14a258 T A 7: 86,035,251 (GRCm39) M206L probably benign Het
Ostf1 C A 19: 18,567,822 (GRCm39) G101C probably damaging Het
Pam C T 1: 97,768,474 (GRCm39) R552Q probably damaging Het
Pkd1l3 A G 8: 110,395,924 (GRCm39) N2108S probably damaging Het
Prkdc A T 16: 15,487,149 (GRCm39) H484L probably benign Het
Pwwp3a A G 10: 80,075,812 (GRCm39) D466G probably damaging Het
Rfx5 G A 3: 94,864,493 (GRCm39) R213Q probably damaging Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Sall2 A G 14: 52,552,971 (GRCm39) S73P probably damaging Het
Sec22c G A 9: 121,513,845 (GRCm39) A264V probably benign Het
Sis A C 3: 72,796,319 (GRCm39) probably benign Het
Spam1 T A 6: 24,800,802 (GRCm39) probably benign Het
Spmip2 T C 3: 79,252,839 (GRCm39) I18T possibly damaging Het
St13 T A 15: 81,250,583 (GRCm39) I318F probably damaging Het
Syne1 T C 10: 5,374,382 (GRCm39) I142V probably damaging Het
Tasor2 C T 13: 3,635,371 (GRCm39) E479K probably benign Het
Trpm6 A T 19: 18,809,903 (GRCm39) T1100S possibly damaging Het
Ttll6 G A 11: 96,026,366 (GRCm39) W90* probably null Het
Txndc12 T A 4: 108,691,989 (GRCm39) C9* probably null Het
Ubr7 C T 12: 102,734,535 (GRCm39) Q270* probably null Het
Vps33b A G 7: 79,934,817 (GRCm39) S302G probably benign Het
Xylt1 T A 7: 117,233,997 (GRCm39) V508E probably damaging Het
Zbtb26 A T 2: 37,326,703 (GRCm39) L111Q possibly damaging Het
Zfp410 T C 12: 84,379,702 (GRCm39) probably benign Het
Zscan18 A T 7: 12,509,223 (GRCm39) probably benign Het
Other mutations in Chrm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Chrm5 APN 2 112,309,577 (GRCm39) missense probably benign
IGL01611:Chrm5 APN 2 112,310,651 (GRCm39) nonsense probably null
IGL03002:Chrm5 APN 2 112,310,706 (GRCm39) missense probably damaging 1.00
C9142:Chrm5 UTSW 2 112,310,556 (GRCm39) missense probably damaging 1.00
R0200:Chrm5 UTSW 2 112,311,065 (GRCm39) missense probably benign
R0432:Chrm5 UTSW 2 112,310,000 (GRCm39) missense possibly damaging 0.76
R1158:Chrm5 UTSW 2 112,310,214 (GRCm39) missense probably benign 0.00
R1611:Chrm5 UTSW 2 112,309,532 (GRCm39) missense possibly damaging 0.74
R1621:Chrm5 UTSW 2 112,310,182 (GRCm39) missense probably benign 0.00
R1693:Chrm5 UTSW 2 112,309,625 (GRCm39) missense probably damaging 1.00
R1988:Chrm5 UTSW 2 112,310,597 (GRCm39) missense probably damaging 0.99
R1989:Chrm5 UTSW 2 112,310,597 (GRCm39) missense probably damaging 0.99
R2071:Chrm5 UTSW 2 112,309,572 (GRCm39) missense probably null 0.93
R2890:Chrm5 UTSW 2 112,310,048 (GRCm39) missense probably benign 0.00
R4659:Chrm5 UTSW 2 112,310,102 (GRCm39) missense probably benign
R4785:Chrm5 UTSW 2 112,309,930 (GRCm39) missense probably benign 0.25
R5196:Chrm5 UTSW 2 112,310,729 (GRCm39) missense probably damaging 1.00
R5734:Chrm5 UTSW 2 112,310,445 (GRCm39) missense probably benign 0.28
R6343:Chrm5 UTSW 2 112,309,793 (GRCm39) missense probably damaging 1.00
R6499:Chrm5 UTSW 2 112,310,825 (GRCm39) missense probably benign
R6672:Chrm5 UTSW 2 112,310,141 (GRCm39) missense probably benign
R6905:Chrm5 UTSW 2 112,309,901 (GRCm39) missense probably benign 0.00
R7192:Chrm5 UTSW 2 112,310,672 (GRCm39) missense probably damaging 0.97
R7775:Chrm5 UTSW 2 112,310,301 (GRCm39) missense probably benign 0.07
R7778:Chrm5 UTSW 2 112,310,301 (GRCm39) missense probably benign 0.07
R8780:Chrm5 UTSW 2 112,310,453 (GRCm39) missense possibly damaging 0.64
R9287:Chrm5 UTSW 2 112,309,610 (GRCm39) missense probably damaging 1.00
R9436:Chrm5 UTSW 2 112,309,824 (GRCm39) missense possibly damaging 0.69
R9502:Chrm5 UTSW 2 112,311,040 (GRCm39) missense probably damaging 1.00
X0023:Chrm5 UTSW 2 112,310,826 (GRCm39) missense probably benign
Posted On 2015-04-16